Search

Abstract Purpose To characterize the phenotype and genotype of a Chinese family with autosomal‐dominant retinitis pigmentosa (RP) accompanied by iris coloboma. Methods The proband, a 34‐year‐old male, was examined with his family by using fundus photography, optical coherence tomography (OCT), autofluorescence, and full‐field electroretinography (ffERG). Genetic analyses were conducted through whole‐exome sequencing (WES) to screen for variations. Results Three members of this Chinese family were shown to be bilateral iris coloboma. The male proband and his mother exhibited typical RP feature. The proband's late grandfather had been documented manifestation of iris coloboma. The mode of inheritance was confirmed to be autosomal dominance. Through linkage analysis and WES, a heterozygous variation in the miR‐204 gene (n.37C>T), a noncoding RNA gene, was identified in these three members. Conclusions In this third independent and the first Asian family, the existence of a miR‐204 variant associated with RP accompanied by iris coloboma was confirmed. Our findings reinforce the significance of miR‐204 as an important factor influencing visual function in the retina. When phenotypes like RP accompanied by iris coloboma in an autosomal‐dominant pattern, including in Chinese patients, miR‐204 aberrations should be considered.

Raman spectroscopy can characterize the rich molecular vibration information of soybean milk powder samples, but difficulties arise in its direct use for sample classification and identification. Therefore, it is urgent to develop an intelligent identification technology based on Raman spectroscopy. For brand identification of soybean milk powder, this work investigates and discusses a variety of spectral processing technologies including wavelet denoising, normalization, principal component analysis, and the results show that appropriate spectral processing can improve the recognition accuracy of the random forest algorithm. Under the optimal conditions (db2 wavelet, normalization, principal component analysis, 30 decision trees), the best recognition effect of soybean milk brand identification can be achieved. The Raman spectral signal acquisition time of each sample is 40 s, and the spectra pretreatment and identification operation time only takes a few minutes. The analytical approach established in this paper has the advantages of convenient and fast Raman spectra acquisition, fast and accurate model identification., Author(s): Zheng-Yong Zhang [sup.1] , Xiao-Jing Shi [sup.1] , Ya-Ju Zhao [sup.2] , Yin-Sheng Zhang [sup.2] , Hai-Yan Wang [sup.2] Author Affiliations: (1) grid.440844.8, 0000 0000 8848 7239, School of [...]

The Central Asian Orogenic Belt (CAOB) was formed by the aggregation and collage of numerous Paleozoic subduction‐accretion assemblages and Precambrian microcontinental blocks. However, the tectonic nature of the southeastern CAOB remains controversial, which complicates the reconstruction of the Paleo‐Asian Ocean. To address this issue, a deep seismic reflection survey was initiated across the southeastern CAOB and reveals broad gentle sub‐horizontal reflectors in the middle‐lower crust and a relatively transparent zone in the upper crust. Combining with the Precambrian geological outcrops and other geophysical features, we support a microcontinental block, the Xilinhot Block, existed in the Paleo‐Asian domain. Thus, the Paleo‐Asian Ocean was separated into two branches that underwent north‐dipping and double‐dipping oceanic plate subduction, respectively, to form the Hegenshan‐Heihe and Solonker sutures. Multiple relics beneath Hegenshan‐Heihe Suture indicate that multiple sets of unidirectional oceanic subduction‐accretion and magmatism were important mechanisms of continental growth. Plain Language Summary: During the consumption of the Paleo‐Asian Ocean, a great number of Paleozoic subduction‐related accretionary complexes were developed and combined with pre‐existing Precambrian continental fragments to form the Central Asian Orogenic Belt (CAOB). However, research on the tectonic evolution of this area has been limited, and the tectonic nature of the southeastern CAOB remains controversial. A deep seismic reflection survey along the southeastern CAOB shows the crustal architecture in detail. The broad gentle sub‐horizontal reflectors and a relatively transparent zone in the profile reveal a Precambrian continental fragment existed in the North Orogenic Belt of CAOB. The Paleo‐Asian Ocean was further separated into two parts, the fossil subduction zones of which show northward and bidirectional dipping characteristics beneath the Hegenshan‐Heihe and Solonker sutures, respectively. Several relics of the unidirectional subduction beneath the Hegenshan‐Heihe Suture indicate that multiple sets of unidirectional oceanic subduction‐accretion and magmatism were important mechanisms of continental growth. Key Points: A preserved microcontinental block has been revealed in the North Orogenic Belt of Central Asian Orogenic BeltThe Paleo‐Asian Ocean was separated into two branches, which were closed respectively by north‐dipping and double‐dipping subductionMultiple unidirectional subduction‐accretion and oceanic magmatism may contribute to continental growth [ABSTRACT FROM AUTHOR]

Non-steroidal anti-inflammatory drugs (NSAIDs) are widely applied in the treatment of inflammation, fever and for pain relief based on its efficacy in anti-inflammatory, anti-rheumatic, analgesic, antipyretic, and anticoagulation. Moreover, the relationship between NSAIDs and immune cells is quite important since. NSAIDs can negatively regulate B cell proliferation via inhibiting prostaglandin (PG), improve the imbalance of Th1/Th2 and immunologic derangement caused by Th17 differentiation, inhibit release of TNF-α by macrophages and decrease the level of tumor necrosis factor (TNF)-α, influence inflammation via controlling other inflammatory cytokines. In addition, the mechanism may be concerned with several signal pathways including PGE2 receptor 2 (PGE2-EP2), 5-hydroxytryptamine(5-HT), glucagon-like peptide-2 (GLP-2) and nuclear factor kappa-B-interleukin-6- signal transducer and activator of transcription 3 (NF-κB-IL-6-STAT3). Thus, it is necessary to further investigate the regulation and mechanism of NSAIDs on various immunocytes, potentially provide a new strategy to optimize immune funtions under trauma and disease.

ZrO2/Al2O3porous ceramics were prepared by gel-foaming technique. The rheological property of slurry, the effect of solid content on the microstructure and mechanical property of the porous green bodies and the relationship between the MgO sintering additive content with the compressive strength and porosity of porous ceramics were investigated. The results show when the dispersant content is 0.4%(mass fraction), ball milling time is 4 h and the pH value is 4, the low viscosity is conductive to gelcasting. The porosity of green body reduces with the increase of solid content. The excessive solid content makes the slurry hard to flow, and the big pores and cracks form during gelcasting process, then the compressive strength of green body decreases. The mechanical properties of porous ceramics are improved with the phase transformation and micro-crack toughening induced by the ZrO2. The densification of pore supports increases, the porosity reduces and compressive strength increases with the increase of sintering additive content. The highest compressive strength is 30 MPa. The porous ceramics with appropriate porosity and high compressive strength can be prepared by introducing suitable contents of ZrO2 and sintering additive.

Objective To investigate the expression of HIF-1 α, PAR-1 and VEGF in breast cancer tissues from patients with type 2 diabetes and the effect of hypoxia microenvironment on the invasion and proliferation of human breast cancer cell line (MCF-7). Methods Thirty-seven specimens of breast cancer from patients with complicated with type 2 diabetes mellitus were examined by surgical resection. The expression of HIF-1α, PAR-1, VEGF and microvessel density (MVD) in breast cancer and paracancerous tissues were examined by immunohistochemistry. MCF-7 cells were divided into control group (5.6 mmol/L glucose), high glucose group (30 mmol/L glucose), hypoxia group (1% O2 5% CO2 94% N2) and high glucose plus hypoxia group. The cell morphology was observed by microscoped, the cell proliferation was detected by CCK-8 method, the invasive ability of cells was detected by Transwell chamber test, and the expression of HIF-1α, PAR-1, VEGF mRNA and protein were detected by RT-qPCR and Western blot. Results The expression of HIF-1α, PAR-1, VEGF and MVD count in breast cancer tissues were higher than those in periaracancerous tissues(P＜0.05); the number of cells passing through the basement membrane and the cell survival rate of MCF-7 in the high glucose hypoxia group were significantly higher than those in the control group (P＜0.01); and the expressions of HIF-1α, PAR-1, VEGF mRNA and protein in the hypoxia group and hypoxia high glucose group were significantly higher than those in the control group(P＜0.05). Conclusions Hypoxia and high glucose can promote the proliferation and invasion and the expression of HIF-1α, PAR-1, VEGF of MCF-7 cells, which is a potential target for clinical detection and treatment of breast cancer of patients with type 2 diabetes.

Caoyuanheimo-1 (Agaricus sp.) is a delectable mushroom native to Inner Mongolia, China, belonging to the Agaricus genus and valued for both its edible and medicinal properties. Although it has been cultivated to a certain extent, the molecular mechanisms regulating its development remain poorly understood. Building on our understanding of its growth and development conditions at various stages, we conducted transcriptomic and metabolomic studies to identify the differentially expressed genes (DEGs) and metabolites throughout its growth cycle. Simultaneously, we analyzed the synthesis pathways and identified several key genes involved in the production of terpenoids, which are secondary metabolites with medicinal value widely found in mushrooms. A total of 6843 unigenes were annotated, and 449 metabolites were detected in our study. Many of these metabolites and differentially expressed genes (DEGs) are involved in the synthesis and metabolism of amino acids, such as arginine, cysteine, methionine, and other amino acids, which indicates that the genes related to amino acid metabolism may play an important role in the fruiting body development of Caoyuanheimo-1. Succinic acid also showed a significant positive correlation with the transcriptional level changes of nine genes, including laccase-1 (TRINITY_DN5510_c0_g1), fruiting body protein SC3 (TRINITY_DN3577_c0_g1), and zinc-binding dihydrogenase (TRINITY_DN2099_c0_g1), etc. Additionally, seventeen terpenoids and terpenoid-related substances were identified, comprising five terpenoid glycosides, three monoterpenoids, two diterpenoids, one sesquiterpenoid, one sesterterpenoid, two terpenoid lactones, and three triterpenoids. The expression levels of the genes related to terpenoid synthesis varied across the three developmental stages. [ABSTRACT FROM AUTHOR]

During the outbreak of COVID-19, the pathogenic virus SARS-CoV-2, characterized by highly infectious, lethal and unpredictable outcomes has brought a variety of psychological shocks to the general public including the ordinary people, patients with confirmed diagnosis and suspected cases. Harmful psychological stress often causes panic to the society. For individuals, it can not only lead to the occurrence of psychological stress disorders such as anxiety, depression and post-traumatic stress disorder(PTSD), but also is not conducive to the recovery of patients with COVID-19.Intervention of psychological stress during the pandemic is necessary. This article analyzes the psychological stress disorders of different populations during the COVID-19 pandemic and discusses their intervention strategies, which help to treat individuals in time and avoid the occurrence of psychological stress disorders, facilitate rehabilitation of patients with COVID-19.